Variant report

Variant	esv3381478
Chromosome Location	chr1:246776377-246778342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246763228..246766814-chr1:246773284..246776572,4	K562	blood:
2	chr1:246727229..246731275-chr1:246773267..246778160,5	MCF-7	breast:
3	chr1:246769755..246771548-chr1:246776267..246778089,2	K562	blood:
4	chr1:246775147..246776815-chr1:246778943..246781797,2	K562	blood:

Variant related genes	Relation type
ENSG00000162852	chromatin interactions
ENSG00000162851	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77906492	chr1:246776427-246776428	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7538605	chr1:246776481-246776482	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372903547	chr1:246776511-246776512	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200284714	chr1:246776550-246776551	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549375869	chr1:246776597-246776598	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181414205	chr1:246776642-246776643	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528820768	chr1:246776655-246776656	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551988713	chr1:246776744-246776745	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115473373	chr1:246776768-246776769	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147024514	chr1:246776867-246776868	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534943944	chr1:246776937-246776938	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143286894	chr1:246776956-246776957	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376823698	chr1:246776958-246776959	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141558989	chr1:246776962-246776963	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147017039	chr1:246776965-246776966	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150162300	chr1:246776968-246776969	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146563033	chr1:246776973-246776974	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113422287	chr1:246776981-246776982	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs199595614	chr1:246777003-246777004	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72762785	chr1:246777036-246777037	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138340906	chr1:246777039-246777040	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367782584	chr1:246777065-246777066	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566416877	chr1:246777120-246777121	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558976768	chr1:246777128-246777129	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558324401	chr1:246777142-246777143	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575096312	chr1:246777196-246777197	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs184358672	chr1:246777202-246777203	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554662927	chr1:246777216-246777217	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189048757	chr1:246777241-246777242	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373274197	chr1:246777285-246777286	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540203365	chr1:246777328-246777329	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577302551	chr1:246777339-246777340	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149631037	chr1:246777363-246777364	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545166481	chr1:246777368-246777369	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565439138	chr1:246777390-246777391	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs570947641	chr1:246777428-246777429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562738537	chr1:246777453-246777454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs114698542	chr1:246777485-246777486	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144380745	chr1:246777504-246777505	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115631885	chr1:246777602-246777603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs80020952	chr1:246777617-246777618	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546967005	chr1:246777636-246777637	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566575497	chr1:246777643-246777644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542024034	chr1:246777714-246777715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558435536	chr1:246777730-246777731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs180963604	chr1:246777794-246777795	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs61852387	chr1:246777812-246777813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370156971	chr1:246777815-246777816	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553730522	chr1:246777828-246777829	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs75839644	chr1:246777829-246777830	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246739000-246806200	Weak transcription	Aorta	Aorta
2	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:246764200-246784200	Weak transcription	Thymus	Thymus
4	chr1:246765800-246779600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:246766200-246784200	Weak transcription	Dnd41	blood
6	chr1:246771400-246784600	Weak transcription	Fetal Stomach	stomach
7	chr1:246771600-246776800	Enhancers	Colon Smooth Muscle	Colon
8	chr1:246772200-246795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:246772400-246776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:246772400-246784600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:246772600-246776400	Weak transcription	K562	blood
12	chr1:246772600-246779600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:246772600-246780000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:246772600-246784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:246772600-246784000	Weak transcription	Liver	Liver
16	chr1:246772600-246784000	Weak transcription	GM12878-XiMat	blood
17	chr1:246772600-246784800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:246772600-246784800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:246772600-246790600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:246772600-246795600	Weak transcription	HepG2	liver
21	chr1:246772800-246783800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:246772800-246783800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:246772800-246784000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:246772800-246784000	Weak transcription	Spleen	Spleen
25	chr1:246772800-246789200	Weak transcription	Ovary	ovary
26	chr1:246773000-246776400	Weak transcription	A549	lung
27	chr1:246773000-246776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:246773000-246779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:246773000-246782600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:246773000-246784800	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:246773000-246784800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:246773000-246790200	Weak transcription	Small Intestine	intestine
33	chr1:246773000-246790200	Weak transcription	HSMM	muscle
34	chr1:246773000-246792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:246773200-246776400	Weak transcription	HMEC	breast
36	chr1:246773200-246780600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:246773200-246782200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:246773200-246799000	Weak transcription	Fetal Lung	lung
39	chr1:246773400-246780200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:246773400-246784400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:246773400-246785000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:246773600-246795400	Weak transcription	Placenta	Placenta
43	chr1:246773800-246780200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:246773800-246784600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:246773800-246795800	Weak transcription	Hela-S3	cervix
46	chr1:246774000-246776800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:246774000-246792600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:246774200-246780200	Weak transcription	NHDF-Ad	bronchial
49	chr1:246774200-246781000	Weak transcription	Primary T cells from cord blood	blood
50	chr1:246774400-246776400	Weak transcription	Brain Inferior Temporal Lobe	brain

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